Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0494475 (tonic-clonic seizure)
 1,319 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

It has been found that PME without Lafora bodies is more common in Finland than elsewhere. The incidence is 1:20,000. The mode of inheritance is autosomal recessive. At first the children are healthy. Stimulus-sensitive myoclonic jerks and grand mal seizures appear at the age of 6 to 15 years. The EEG shows a generalized disturbance with spike-wave or polyspike-wave paroxysms which increase during photic stimulation. Myoclonic jerks incapacitate the patient. Within 5 years after the onset of the first symptoms, many patients have a disorder of gait and may become confined to bed. Sodium valproate alone or combined with clonazepam is the most effective therapy. However, the course of the disease is progressive. The mean age at death has been 24 years but appears to be increasing. The etiology and pathogenesis of PME without Lafora bodies are unknown. Increased excretion of indican has been noted, suggesting deficient intestinal absorption of L-tryptophan. A loss of Purkinje cells is the most prominent neuropathological feature. No inclusion bodies are present. Finnish PME patients are similar to the patients described by Unverricht from Estonia and by Lundborg from Sweden. Neuropathological data from these patients are not available. Clinically, these patients could form an entity with Finnish patients defined as a Baltic or Nordic type of PME. The gene is enriched in Finland, but elsewhere it is rare.
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PMID:Baltic myoclonus. 241 50

A pair of female identical twins exhibited slurred speech, nystagmus, and oculogyral spasms starting at age 11. The patients then had episodic rage, extrapyramidal and lower motor neuron abnormalities, and grand mal seizures, but retained largely normal intelligence, until death at age 21. Severe loss of nigral and craniospinal motor neurons was noted postmortem. Round, eosinophilic, autofluorescent inclusion bodies, 3 to 10 microns in diameter, were observed in the nuclei of most nerve cell types of the central and peripheral nervous systems and retina. Ultrastructurally the inclusions appeared as masses of filaments without a limiting membrane, the constituent filaments having a diameter of 8.5 to 9.5 nm. Histochemical results suggested the presence of proteins with a high content of tryptophan. Four similar cases have been reported previously under various designations. We propose the name neuronal intranuclear inclusion disease for the disorder.
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PMID:Neuronal intranuclear inclusion disease in identical twins. 633 Dec 75